Osteogenesis imperfecta
Gene: FAM46AEnsemblGeneIds (GRCh38): ENSG00000112773
EnsemblGeneIds (GRCh37): ENSG00000112773
OMIM: 611357, Gene2Phenotype
FAM46A is in 3 panels
6 reviews
Meena Balasubramanian (Sheffield Children's NHS Foundation Trust)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ostoegenesis Imperfecta; Fractures
Publications
Duncan Baker (Sheffield Genetics)
Eleanor Williams (Genomics England Curator)
Further green review by Meena Balasubramanian, so keeping green rating.Created: 15 Sep 2021, 1:42 p.m. | Last Modified: 15 Sep 2021, 1:42 p.m.
Panel Version: 2.26
This gene was part of an initial gene list collated by Duncan Baker, Sheffield Diagnostic Genetics Service, January 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: FAM46A; Suggested initial gene rating: greenCreated: 3 Apr 2019, 4:08 p.m.
Louise Daugherty (Genomics England Curator)
Added new-gene-name tag, new approved HGNC gene symbol is TENT5ACreated: 30 Apr 2018, 9:11 a.m.
Sarah Leigh (Genomics England Curator)
Not associated with phenotype in OMIM or G2P. Three homozygous variants reported in three unrelated cases with a severe form of osteogenesis imperfecta (OI), the first case reported in PMID: 29358272 was initially diagnosed with Stüve-Wiedemann syndrome, demonstrating the overlap between these two conditions. A mouse model homozygous for a nonsense variant manifests features (decreased body length, limb, rib, pelvis, and skull deformities and reduced cortical thickness in long bones.) consistent with OICreated: 27 Feb 2018, 3:46 p.m.
Raymond Dalgleish (University of Leicester)
Three variants identified in this gene causing osteogenesis imperfecta,
A nonsense mutation in Fam46a has been recently identified in an ENU-derived (N-ethyl-N-nitrosourea) mouse model characterised by decreased body length, limb, rib, pelvis, and skull deformities and reduced cortical thickness in long bonesCreated: 13 Feb 2018, 2:52 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
osteogenesis imperfecta
Publications
- PMID: 29358272
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Osteogenesis imperfecta, type XVIII, OMIM:617952
- osteogenesis imperfecta, type 18, MONDO:0044329
- Tags
- OMIM
- 611357
- Clinvar variants
- Variants in FAM46A
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: FAM46A were changed from Osteogenesis imperfecta, type XVIII, OMIM:617952 to Osteogenesis imperfecta, type XVIII, OMIM:617952; osteogenesis imperfecta, type 18, MONDO:0044329
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: FAM46A were changed from osteogenesis imperfecta to Osteogenesis imperfecta, type XVIII, OMIM:617952
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source NHS GMS was added to FAM46A. Rating Changed from Green List (high evidence) to Green List (high evidence)
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Sarah Leigh (Genomics England Curator)Publications for FAM46A were set to 29358272
Added New Source
Raymond Dalgleish (University of Leicester)FAM46A was added to Osteogenesis Imperfecta panel. Sources: Expert list
Created
Raymond Dalgleish (University of Leicester)FAM46A was created by Raymond Dalgleish